| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ASTHMA |
— |
GWAS catalog
|
23829686 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATYPICAL FEMORAL FRACTURE |
— |
GWAS catalog
|
31006051 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atypical Gaucher Disease |
Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATYPICAL GAUCHER DISEASE DUE TO SAPOSIN C DEFICIENCY |
— |
Orphanet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BIPOLAR DISORDER |
— |
GWAS catalog
|
30217971 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHILDHOOD ONSET ASTHMA |
— |
GWAS catalog
|
23829686 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clear cell carcinoma of kidney |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED SAPOSIN DEFICIENCY |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
|
1371116,11309366 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERY DISEASE |
— |
GWAS catalog
|
29212778 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 12 |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EOSINOPHILIC ESOPHAGITIS |
— |
GWAS catalog
|
36400179 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galactosylceramide beta-galactosidase deficiency |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEUKODYSTROPHY, METACHROMATIC |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEUKODYSTROPHY, METACHROMATIC, ADULT |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAJOR DEPRESSIVE DISORDER |
— |
GWAS catalog
|
30217971 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| metachromatic leukodystrophy due to saposin B deficiency |
— |
ClinGen |
10682309, 17616409, 18480170, 19267410, 1977956, 2019586, 2302219, 24478108, 30632081, 31319425, 8554069, ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METACHROMATIC LEUKODYSTROPHY, ADULT FORM |
— |
Orphanet
|
24478108 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METACHROMATIC LEUKODYSTROPHY, CONGENITAL TYPE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM |
— |
Orphanet
|
24478108 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METACHROMATIC LEUKODYSTROPHY, JUVENILE TYPE |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM |
— |
Orphanet
|
24478108 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neuromuscular disease |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROMUSCULAR DISEASES |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson disease, late-onset |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| RETINITIS PIGMENTOSA-DEAFNESS SYNDROME |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| USHER SYNDROME, TYPE I |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| USHER SYNDROME, TYPE ID |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine carcinosarcoma |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |